Síndrome de Rothmund-Thomson tipo I: Comunicación de un caso en población colombiana y revisión de la literatura

A. M. Zarante; F. Suárez-Obando; J. C. Acosta

Síndrome de Rothmund-Thomson tipo I: Comunicación de un caso en población colombiana y revisión de la literatura

Translated title of the contribution: Rothmund-Thomson type I syndrome: A case report in colombian poblation and review of the literature

A. M. Zarante
, F. Suárez-Obando
, J. C. Acosta

Research output: Contribution to journal › Review article › peer-review

Abstract

Rothmund-Thomson syndrome (RTS) is an autosomal recessive genodermatosis presenting with congenital poikiloderma, caused by mutations in the RECQL4 gene. Congenital poikiloderma, is characterized by: cutaneous rash, skin atrophy and telangiectasic lesions with areas of hyperpigmentation or depigmentation. RTS is associated with short stature, sparse eyelashes, sparse eyebrows and sparse scalp hair, skeletal abnormalities, premature aging, photosensitivity, ungueal dystrophy and predisposition to skin and bone cancers. Here we report the case of a patient with Rothmund-Thomson syndrome type I.

Translated title of the contribution	Rothmund-Thomson type I syndrome: A case report in colombian poblation and review of the literature
Original language	Spanish
Journal	Revista Argentina de Dermatologia
Volume	94
Issue number	4
State	Published - Dec 2013

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Cite this

@article{f2cfda659806482d8c4addc223f8610e,

title = "S{\'i}ndrome de Rothmund-Thomson tipo I: Comunicaci{\'o}n de un caso en poblaci{\'o}n colombiana y revisi{\'o}n de la literatura",

abstract = "Rothmund-Thomson syndrome (RTS) is an autosomal recessive genodermatosis presenting with congenital poikiloderma, caused by mutations in the RECQL4 gene. Congenital poikiloderma, is characterized by: cutaneous rash, skin atrophy and telangiectasic lesions with areas of hyperpigmentation or depigmentation. RTS is associated with short stature, sparse eyelashes, sparse eyebrows and sparse scalp hair, skeletal abnormalities, premature aging, photosensitivity, ungueal dystrophy and predisposition to skin and bone cancers. Here we report the case of a patient with Rothmund-Thomson syndrome type I.",

keywords = "Congenital poikiloderma, Genodermatosis, RECQL4 helicase, Rothmund-Thomson syndrome",

author = "Zarante, \{A. M.\} and F. Su{\'a}rez-Obando and Acosta, \{J. C.\}",

year = "2013",

month = dec,

language = "Espa{\~n}ol ",

volume = "94",

journal = "Revista Argentina de Dermatologia",

issn = "0325-2787",

publisher = "Asociation Argentina de Dermatologia",

number = "4",

}

TY - JOUR

T1 - Síndrome de Rothmund-Thomson tipo I

T2 - Comunicación de un caso en población colombiana y revisión de la literatura

AU - Zarante, A. M.

AU - Suárez-Obando, F.

AU - Acosta, J. C.

PY - 2013/12

Y1 - 2013/12

N2 - Rothmund-Thomson syndrome (RTS) is an autosomal recessive genodermatosis presenting with congenital poikiloderma, caused by mutations in the RECQL4 gene. Congenital poikiloderma, is characterized by: cutaneous rash, skin atrophy and telangiectasic lesions with areas of hyperpigmentation or depigmentation. RTS is associated with short stature, sparse eyelashes, sparse eyebrows and sparse scalp hair, skeletal abnormalities, premature aging, photosensitivity, ungueal dystrophy and predisposition to skin and bone cancers. Here we report the case of a patient with Rothmund-Thomson syndrome type I.

AB - Rothmund-Thomson syndrome (RTS) is an autosomal recessive genodermatosis presenting with congenital poikiloderma, caused by mutations in the RECQL4 gene. Congenital poikiloderma, is characterized by: cutaneous rash, skin atrophy and telangiectasic lesions with areas of hyperpigmentation or depigmentation. RTS is associated with short stature, sparse eyelashes, sparse eyebrows and sparse scalp hair, skeletal abnormalities, premature aging, photosensitivity, ungueal dystrophy and predisposition to skin and bone cancers. Here we report the case of a patient with Rothmund-Thomson syndrome type I.

KW - Congenital poikiloderma

KW - Genodermatosis

KW - RECQL4 helicase

KW - Rothmund-Thomson syndrome

UR - https://www.scopus.com/pages/publications/84892741978

M3 - Artículo de revisión

AN - SCOPUS:84892741978

SN - 0325-2787

VL - 94

JO - Revista Argentina de Dermatologia

JF - Revista Argentina de Dermatologia

IS - 4

ER -

Síndrome de Rothmund-Thomson tipo I: Comunicación de un caso en población colombiana y revisión de la literatura

Abstract

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